Variant report

Variant	rs3128395
Chromosome Location	chr7:112073726-112073727
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr7:112073339-112073790	K562	blood:	n/a	n/a
2	PML	chr7:112073386-112073782	K562	blood:	n/a	n/a
3	GATA2	chr7:112073337-112073806	K562	blood:	n/a	n/a
4	STAT5A	chr7:112073339-112073816	K562	blood:	n/a	n/a
5	CEBPD	chr7:112073332-112073849	K562	blood:	n/a	n/a
6	TAL1	chr7:112073387-112073783	K562	blood:	n/a	n/a
7	TEAD4	chr7:112073285-112073804	K562	blood:	n/a	n/a
8	ATF1	chr7:112073465-112073743	K562	blood:	n/a	n/a
9	RCOR1	chr7:112073349-112073772	K562	blood:	n/a	n/a
10	PML	chr7:112073320-112073811	K562	blood:	n/a	n/a
11	POLR2A	chr7:112073279-112073736	HL-60	blood:	n/a	n/a
12	GATA2	chr7:112073343-112073752	K562	blood:	n/a	n/a
13	GABPA	chr7:112073421-112073780	K562	blood:	n/a	n/a
14	TBL1XR1	chr7:112073472-112073744	K562	blood:	n/a	n/a
15	TEAD4	chr7:112073285-112073880	K562	blood:	n/a	n/a
16	NR2F2	chr7:112073359-112073748	K562	blood:	n/a	n/a
17	TRIM28	chr7:112073363-112073747	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:112071817..112074213-chr7:112075393..112077326,2	K562	blood:
2	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:
3	chr7:112070004..112076448-chr7:112089182..112092278,11	K562	blood:
4	chr7:112071300..112074069-chr7:112086981..112088572,2	K562	blood:

No data

Variant related genes	Relation type
IFRD1	TF binding region
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10046468	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10224789	0.93[ASN][1000 genomes]
rs10227494	1.00[ASN][1000 genomes]
rs10232109	1.00[ASN][1000 genomes]
rs10232110	1.00[ASN][1000 genomes]
rs10237213	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10239663	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10243005	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10246422	1.00[ASN][1000 genomes]
rs10248314	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10251698	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10253148	0.86[ASN][1000 genomes]
rs10261860	1.00[ASN][1000 genomes]
rs10266976	1.00[ASN][1000 genomes]
rs10269057	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10274016	0.93[ASN][1000 genomes]
rs10275406	1.00[ASN][1000 genomes]
rs10276140	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10276369	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10276727	0.93[ASN][1000 genomes]
rs10276853	1.00[ASN][1000 genomes]
rs10278420	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10281805	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10282279	1.00[ASN][1000 genomes]
rs1047550	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1047551	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12530699	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12532522	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12534930	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17159353	1.00[ASN][1000 genomes]
rs17159566	0.86[ASN][1000 genomes]
rs17159604	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17159640	0.87[AMR][1000 genomes]
rs17402962	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17491423	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2285732	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28532417	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2894646	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3109106	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3109108	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3109116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3109117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35134215	1.00[ASN][1000 genomes]
rs41281060	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56132236	1.00[ASN][1000 genomes]
rs56341778	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57214357	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60127009	1.00[ASN][1000 genomes]
rs60691495	1.00[ASN][1000 genomes]
rs61669542	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67064485	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67604537	1.00[ASN][1000 genomes]
rs6947063	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6950282	1.00[ASN][1000 genomes]
rs6965896	1.00[ASN][1000 genomes]
rs6969176	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193000	1.00[ASN][1000 genomes]
rs73195204	1.00[ASN][1000 genomes]
rs73195211	1.00[ASN][1000 genomes]
rs73195218	1.00[ASN][1000 genomes]
rs73195220	1.00[ASN][1000 genomes]
rs73195223	1.00[ASN][1000 genomes]
rs73195224	1.00[ASN][1000 genomes]
rs73195225	1.00[ASN][1000 genomes]
rs73197338	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73197343	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73197349	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73197363	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73197366	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73197367	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73197376	1.00[ASN][1000 genomes]
rs7786555	1.00[ASN][1000 genomes]
rs7790065	1.00[ASN][1000 genomes]
rs7806811	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7810149	1.00[ASN][1000 genomes]
rs7810734	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7812188	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv1801262	chr7:112071795-112104179	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112061000-112089800	Weak transcription	Aorta	Aorta
2	chr7:112064200-112088400	Weak transcription	Psoas Muscle	Psoas
3	chr7:112064400-112074800	Weak transcription	A549	lung
4	chr7:112065800-112079800	Weak transcription	Pancreas	Pancrea
5	chr7:112068600-112077200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:112071000-112077000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:112072000-112073800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:112072400-112073800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr7:112072400-112074600	Enhancers	Dnd41	blood
10	chr7:112072400-112074800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:112073000-112073800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:112073200-112073800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:112073200-112073800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:112073200-112074200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr7:112073400-112073800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr7:112073400-112073800	Enhancers	K562	blood
17	chr7:112073600-112073800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:112073600-112073800	Enhancers	HSMMtube	muscle
19	chr7:112073600-112074800	Weak transcription	NHEK	skin
20	chr7:112073600-112075000	Weak transcription	HMEC	breast
21	chr7:112073600-112075200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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